Neurofibromatosis Type 1

Gene: MAP2K1

Red List (low evidence)

MAP2K1 (mitogen-activated protein kinase kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 20 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Only one case report
Created: 14 Nov 2016, 9:37 a.m.
Only one case report. Not listed as causative on OMIM/UKGTN/Emory/Rabdoud
Created: 14 Nov 2016, 9:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100

Publications

History Filter Activity

14 Nov 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Panel finalised 14th November 2016

14 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

MAP2K1 was added to Neurofibromatosis Type 1panel. Sources: Literature

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

MAP2K1 was created by agardham